Between 20,000 and 30,000 people suffer from it in France. The High Authority for Health now recommends systematic neonatal screening.
by Nathalie Brafman
For ten years, calls for associations of patients, doctors and researchers have multiplied in favor of systematic neonatal screening for sickle cell anemia. They were finally heard. In an opinion rendered Tuesday, November 15, the High Authority for Health (HAS) recommends generalizing it to all newborns in the same way as five other diseases including, in particular, cycling or even congenital hypothyroidism.
This hereditary blood disease affects hemoglobin causing a deformation of the red blood cells which lose their rounded shape and take on the appearance of a false (hence the other name of this affection: Falciform anemia) and causing a Occlusion of small vessels. The disease, which is transmitted by both parents carrying the gene, but non -sick, manifests itself, among other things, by chronic anemia requiring blood transfusions, painful bone crises evoking a fracture. Another involvement: an increased risk of infections. “Sickle cell anemia is the leading cause of strokes in children and young adults,” notes the has in its opinion.
Almost unknown to the general public, sickle cell anemia is however the most frequent of genetic diseases detected in newborns and the only one who continues to increase due to the brewing of the population. There are between 20,000 and 30,000 people in France in France. But because it is considered an affection which affects above all the populations from sub-Saharan Africa, the Antilles, North America, India, the Mediterranean periphery or the Middle East, France had decided to Restricping neonatal screening since 1984 to overseas departments and regions. Since 1995, there has been an ethnic targeting (West Indian, African and Mediterranean populations) denounced by patients and doctors as a form of discrimination.
an incidence that increases
Despite the regular calls of the latter, the HAS had concluded in 2014 that the lack of data justifying screening for all newborns and recommended the continuation of targeted screening. “Today, we have a lot of perspective on the disease and new epidemiological data, this has led us to develop our opinion,” explains Andréa Lasserre, the service assessment in public health and evaluation of vaccines at the Has. Starting with the incidence rate. According to the National Coordination Center for Neonatal Screening, 557 children were born in 2020 with a major Drépanocyte syndrome (compared to 412 in 2010), an incidence of 1 in 1,323 births (against 1 in 2,071) – and 1 in 610 on detected population. By way of comparison, in the same year, 122 babies had cystic fibrosis, an incidence of 1 of 6,064.
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